S6C (p.Ser6Cys) variant of FGB (Fibrinogen beta chain)
S6C (p.Ser6Cys) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- ExAC rs752925190
- gnomAD rs752925190
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available